Table 2.

Disorders with Bilateral Congenital Opacifications of the Cornea to Consider in the Differential Diagnosis of Congenital Stromal Corneal Dystrophy (CSCD)

Disorder/
Condition		Gene(s) / Chromosome LocusMOIAdditional Clinical Features of This Disorder
Overlapping w/CSCDDistinguishing from CSCD
Congenital hereditary endothelial dystrophy SLC4A11 AR
  • Corneal clouding
  • Nystagmus
  • Thick cornea
  • Corneal edema
  • Diffuse opacity
Posterior polymorphous corneal dystrophy OVOL2
COL8A2
ZEB1
GRHL2 		ADCorneal clouding w/corneal opacities
  • Changes at Descemets membrane & endothelium w/vesicular lesions
  • Peripheral anterior synechiae
Posterior amorphous corneal dystrophy12q21.33ADCorneal opacities
  • Hyperopia
  • Flattening of cornea
  • Thin cornea
  • Sheet-like opacifications
  • Involvement of Descemets membrane & endothelium
Congenital glaucoma CYP1B1
LTBP2
TEK 		AR 1
  • Corneal clouding
  • Photophobia
  • Tearing & blepharospasm
  • ↑ intraocular pressure
  • ↑ corneal diameter
  • Breaks in Descemets membrane
Mucopolysaccharidosis (I, IV, VI) IDUA
GALNS
ARSB 		ARCorneal cloudingSystemic involvement
Anterior segment dysgenesis (Peters anomaly) CYP1B1
FOXC1
PAX6
FOXE3
NDP
SLC4A11
HCCS
PITX2
PITX3 		AR
AD		Corneal clouding
  • Large, central opacities
  • Iridocorneal adhesions
  • Iris anomalies
InflammationNANACorneal cloudingRarely present at birth
1.

Autosomal recessive inheritance only accounts for a proportion of congenital glaucoma cases.

From: Congenital Stromal Corneal Dystrophy

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